Canonical Allele Identifier: CA1286884670

Gene: PROC

Linked Data

• ClinVar Variation Id: 670
• ClinVar RCV Id: RCV000000705
• dbSNP Id: rs1688706133
• gnomAD v4: 2-127428824-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428828del , CM000664.2:g.127428828del	GRCh38
NC_000002.11:g.128186404del , CM000664.1:g.128186404del	GRCh37
NC_000002.10:g.127902874del	NCBI36
NG_016323.1:g.15409del , LRG_599:g.15409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1268del MANE Select	ENSP00000234071.4:p.Gly423ValfsTer?
ENST00000234071.7:c.1268del	ENSP00000234071.3:p.Gly423ValfsTer?
ENST00000402125.2:c.592del
ENST00000409048.1:c.1370del	ENSP00000386679.1:p.Gly457ValfsTer?
NM_000312.3:c.1268del , LRG_599t1:c.1268del	NP_000303.1:p.Gly423ValfsTer?
XM_005263715.3:c.1451del	XP_005263772.1:p.Gly484ValfsTer?
XM_005263716.3:c.1433del	XP_005263773.1:p.Gly478ValfsTer?
XM_005263717.3:c.1331del	XP_005263774.1:p.Gly444ValfsTer?
XR_923313.1:n.1332-561del
XM_005263717.4:c.1331del	XP_005263774.1:p.Gly444ValfsTer?
XM_017004505.1:c.1511del	XP_016859994.1:p.Gly504ValfsTer?
XM_024453002.1:c.1613del	XP_024308770.1:p.Gly538ValfsTer?
XM_024453003.1:c.1553del	XP_024308771.1:p.Gly518ValfsTer?
XM_024453004.1:c.1451del	XP_024308772.1:p.Gly484ValfsTer?
XM_024453005.1:c.1433del	XP_024308773.1:p.Gly478ValfsTer?
XM_024453006.1:c.1370del	XP_024308774.1:p.Gly457ValfsTer?
XR_001739705.1:n.3607-561del
XR_923313.2:n.4043-561del
NM_000312.4:c.1268del MANE Select	NP_000303.1:p.Gly423ValfsTer?
NM_001375602.1:c.1451del	NP_001362531.1:p.Gly484ValfsTer?
NM_001375603.1:c.1433del	NP_001362532.1:p.Gly478ValfsTer?
NM_001375604.1:c.1331del	NP_001362533.1:p.Gly444ValfsTer?
NM_001375605.1:c.1370del	NP_001362534.1:p.Gly457ValfsTer?
NM_001375606.1:c.1436del	NP_001362535.1:p.Gly479ValfsTer?
NM_001375607.1:c.1454del	NP_001362536.1:p.Gly485ValfsTer?
NM_001375608.1:c.1211del	NP_001362537.1:p.Gly404ValfsTer?
NM_001375609.1:c.1244del	NP_001362538.1:p.Gly415ValfsTer?
NM_001375610.1:c.1262del	NP_001362539.1:p.Gly421ValfsTer?
NM_001375611.1:c.1268del	NP_001362540.1:p.Gly423ValfsTer?
NM_001375613.1:c.1268del	NP_001362542.1:p.Gly423ValfsTer?